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Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.
Am J Hum Genet. 2000 Dec;67(6):1382-8. doi: 10.1086/316915. Epub 2000 Nov 8.
Am J Hum Genet. 2000.
PMID: 11078474
Free PMC article.
Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.
Erickson RP, Dagenais SL, Caulder MS, Downs CA, Herman G, Jones MC, Kerstjens-Frederikse WS, Lidral AC, McDonald M, Nelson CC, Witte M, Glover TW.
Erickson RP, et al.
J Med Genet. 2001 Nov;38(11):761-6. doi: 10.1136/jmg.38.11.761.
J Med Genet. 2001.
PMID: 11694548
Free PMC article.
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Hydrops fetalis and pulmonary lymphangiectasia due to FOXC2 mutation: an autosomal dominant hereditary lymphedema syndrome with variable expression.
de Bruyn G, Casaer A, Devolder K, Van Acker G, Logghe H, Devriendt K, Cornette L.
de Bruyn G, et al.
Eur J Pediatr. 2012 Mar;171(3):447-50. doi: 10.1007/s00431-011-1557-8. Epub 2011 Sep 15.
Eur J Pediatr. 2012.
PMID: 21918810
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